Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A3
Variant:p.R18del1
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SLC24A3

NM_020689.4:p.R18del1

Associated Papers

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Baz-Redón N et al.

Cells, 2024

38534367 (PubMed )
Supplement: cells-13-00524-s001.zip › Baz-Redon_Supplementary_Materials.pdf

The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.

Lai IN et al.

Molecular Vision, 2010

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.

Aldave AJ et al.

Cornea, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."